Neonatal lupus (NL), a passively-acquired autoimmune disease associated with maternal anti-SSA antibody, presents both cardiac manifestations such as cardiac NL and non-cardiac manifestations including rashes, cytopenia, and hepatic abnormalities. Cardiac NL, occurring in 1-2% of anti-SS-A antibody-positive mothers, is a life-threatening complication with a mortality rate of 20% and a pacemaker implantation rate of 70%. In contrast, cutaneous NL, which is more common than cardiac NL, usually resolves in six months. Since half of NL cases occur in asymptomatic mothers, if an infant presents characteristic cutaneous or cardiac manifestations of NL, the mother should be tested for anti-SS-A antibody. In mothers positive for anti-SS-A antibody, the risk of having a child with cardiac NL increases ten-fold and five-fold for a previous child with cardiac NL and cutaneous NL, respectively. A joint American, British, and French retrospective study of NL registries showed that hydroxychloroquine (HCQ) reduced the cardiac NL risk in subsequent pregnancies in mothers who previously had a child with cardiac NL. A prospective open-label study to confirm this effect is being undertaken in the USA. A similar prospective multi-center study will be undertaken in Japan. Establishing a Japanese registry of children with NL and subsequent pregnancies of their mothers will help promote clinical research in NL in Japan.
The existence of a coronary-to-pulmonary artery fistula (CPF) in pulmonary atresia with ventricular septal defect (PAVSD) potentially affects treatment; however, its clinical features have not been comprehensively described due to the disease’s rarity. We reviewed 69 cases from 42 studies to reveal the clinical overview of patients with CPF and PAVSD. Among the included patients, the male-to-female ratio was exactly 1:1, and only two patients (3%) exhibited the 22q11.2 microdeletion syndrome. Regarding anatomical features, CPFs originated from the left coronary artery in 65% of patients, and 62% had other major aortopulmonary collateral arteries. Thirty-nine percent of patients had a definitive CPF diagnosis at 0 years of age, whereas 10% were diagnosed in adulthood. Seventy percent underwent catheter angiography to obtain a definitive CPF diagnosis. Ninety-five percent of patients underwent cardiac surgery, and among them, 43% underwent palliative surgery, whereas 52% underwent one-stage repair. Four patients including three adult patients developed cardiac dysfunction due to myocardial ischemia, and three of them exhibited improved cardiac function after the intervention for CPF. Of all the patients, 88% survived and 12% died. The surgical strategy and prognosis were similar to those in PAVSD patients without CPF. This review provides detailed clinical phenotypes that are potentially useful in enhancing the management of patients with this rare disease.
In the past, left ventricular dysfunction in a patient with incessant tachyarrhythmia was considered to be a form of tachyarrhythmia-induced cardiomyopathy [1] whereas patients without frequent tachyarrhythmia were regarded as having preserved cardiac function. However, a number of studies reported patients with Wolff-Parkinson-White syndrome (WPWS) with left ventricular dyssynchrony (LVD) even in the absence of frequent tachyarrhythmia. In these patients, ventricular pre-excitation via the accessory pathway (AP) was considered to be responsible for the dyssynchrony, and the position of the AP in most of the cases was the right side or paraseptal [2,3]. The severity of symptoms in patients with WPWS with LVD (LVD-WPWS) varies; obvious heart failure symptoms are absent in some patients and present in others with severe cardiac dysfunction, which is treated with antiheartfailure drugs, such as diuretics, vasodilators, and beta-blockers, despite their poor efficacy [2,4]. Previous studies showed improvement in LVD in WPWS patients after resynchronization therapy, such as catheter ablation or pharmacologic therapy [2]. Catheter ablation in adults and older children is known to be effective for resynchronization and is the preferred treatment for LVD-WPWS [2]. However, there are relatively few case reports of catheter ablation for LVD-WPWS in underweight children [5], presumably due to the risks involved. Some reports mentioned pharmacological resynchronization in children with WPWS with LVD, but these reports are few. In the
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